The nme is from Edward Alfred Cockayne (1880-1956), after whom this disease is named, was a london physician who concentrated particulalry on hereditary diseases of children.
A rare disease that is inherited as an autosomal recessive trait, is marked especially by growth and developmental failure, photosensitivity, and premature aging, and that is either present at birth or has an onset during infancy or childhood called also Cockayne's syndrome .
Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate to profound developmental and neurological delays, and a shortened lifespan. CS is inherited in an autosomal recessive pattern. In order for a child to be affected by CS, he or she must inherit a mutation (-) in the same CS gene from both parents. The parents and other “carriers” of a single CS gene mutation remain healthy. Once a couple are known to carriers, they have a 1 in 4 (25%) chance of having another child with CS
The symptoms of Cockayne syndrome vary significantly, especially with regard to their age of onset and rate of progression. The resulting spectrum of severity can be imperfectly divided into three “types” of CS: No specific treatment currently exists for CS. Patients should be treated according to the symptoms they have. Physical, occupational, speech, vision, and hearing therapy are most often beneficial.
Country-specific prevalence and incidence statistics for Cockayne syndrome using extrapolations to estimated populations and diagnosis rates. ... The statistics used for prevalence/incidence of Cockayne syndrome are typically based on US, UK, Canadian or Australian prevalence or incidence statistics Incidence: 1 in 40,000-300,000 live births: Differences in various ethnic groups ... Frequency: 25% of Cockayne syndrome ... Frequency: 2/3 of of NER-defective Cockayne Syndrome
Edward Alfred Cockayne (1880-1956), after whom this disease is named, was a london physician who concentrated particulalry on hereditary diseases of children.
A rare disease that is inherited as an autosomal recessive trait, is marked especially by growth and developmental failure, photosensitivity, and premature aging, and that is either present at birth or has an onset during infancy or childhood called also Cockayne's syndrome .
Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, microcephaly, progeria (premature aging), sensitivity to sunlight, moderate to profound developmental and neurological delays, and a shortened lifespan. CS is inherited in an autosomal recessive pattern. In order for a child to be affected by CS, he or she must inherit a mutation (-) in the same CS gene from both parents. The parents and other “carriers” of a single CS gene mutation remain healthy. Once a couple are known to carriers, they have a 1 in 4 (25%) chance of having another child with CS
The symptoms of Cockayne syndrome vary significantly, especially with regard to their age of onset and rate of progression. The resulting spectrum of severity can be imperfectly divided into three “types” of CS:
No specific treatment currently exists for CS. Patients should be treated according to the symptoms they have. Physical, occupational, speech, vision, and hearing therapy are most often beneficial.
Country-specific prevalence and incidence statistics for Cockayne syndrome using extrapolations to estimated populations and diagnosis rates. ... The statistics used for prevalence/incidence of Cockayne syndrome are typically based on US, UK, Canadian or Australian prevalence or incidence statistics
Incidence: 1 in 40,000-300,000 live births: Differences in various ethnic groups ... Frequency: 25% of Cockayne syndrome ... Frequency: 2/3 of of NER-defective Cockayne Syndrome